#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Rare anemias from the group of congenital bone marrow failure syndromes


Authors: Dagmar Pospíšilová
Authors place of work: Dětská klinika LF UP a FN Olomouc
Published in the journal: Vnitř Lék 2018; 64(5): 488-500
Category:

Summary

This review summarizes the pathophysiology, genetic background and clinical symptoms of anemias belonging to the group of inherited bone marrow failure syndromes with unilineage failure of erythropoiesis. It sums up the current knowledge of three diseases: Diamond-Blackfan anemia, congenital dyserythropoietic anemia and Fanconi anemia whose pathophysiology was elucidated in detail during the last decade, owing to the rapid development of new molecular-genetic techniques, especially next-generation sequencing. Fanconi anemia is included in this overview because of macrocytosis and/or anemia detected in the majority of the patients before they develop bone marrow failure. The paper also aims at pointing out typical associated anomalies in these diseases which might be overlooked and which can lead to early diagnosis. Unfortunately, the correct diagnosis is often established later in adulthood and, in some cases, as late as at the time of manifestation of malignant disease. Accurate and timely diagnosis of these conditions is extremely important for the determination of appropriate treatment approach, diagnosis of affected family members (especially in the process of bone marrow donor search), and genetic counselling, which can substantially influence the prognosis of these diseases.

Key words:

congenital dyserythropoietic anemia – Diamond-Blackfan anemia – DNA repair – dyserythropoiesis – Fanconi anemia – inherited bone marrow failure – ribosomopathies


Zdroje
  1. Pospíšilová D. Vrozené syndromy selhání kostní dřeně. Postgraduální medicína 2015; 17(6): 589–601.
  2. Vlachos A, Ball S, Dahl N et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008; 142(6): 859–876. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1365–2141.2008.07269.x>.
  3. Vlachos A, Rosenberg PS, Atsidaftos E et al. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood 2012; 119(16): 3815–3819. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2011–08–375972>.
  4. Da Costa L, O’Donohue MF, van Dooijeweert B et al. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet 2017; pii: S1769–7212(17)30505–0. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ejmg.2017.10.017>.
  5. Cmejlova J, Dolezalova L, Pospisilova D et al. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica 2006; 91(11): 1456–1464.
  6. Henter JI, Karlen J. Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia. Blood 2007; 109(12): 5157–5159. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2007–02–065805>.
  7. Pospisilova D, Cmejlova J, Hak J et al. Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. Haematologica 2007; 92(5): e66-e67.
  8. Narla A, Payne EM, Abayasekara N et al. L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. Br J Haematol 2014; 167(4): 524–528. Dostupné z DOI: <http://dx.doi.org/10.1111/bjh.13069>.
  9. Ear J, Huang H, Wilson T et al. RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. Blood 2015; 126(7): 880–890. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2015–01–622522>.
  10. Faivre L, Meerpohl J, Da Costa L et al. High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Haematologica 2006; 91(4): 530–533.
  11. Gambale A, Iolascon A, Andolfo I et al. Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol 2016; 9(3): 283–296. Dostupné z DOI: <http://dx.doi.org/10.1586/17474086.2016.1131608>.
  12. Russo R, Gambale A, Langella C et al. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. Am J Hematol 2014; 89(14): E169-E175. Dostupné z DOI: <http://dx.doi.org/10.1002/ajh.23800>.
  13. Heimpel H, Kellermann K, Neuschwander N et al. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 2010; 95(6): 1034–1036. Dostupné z DOI: <http://dx.doi.org/10.3324/haematol.2009.014563>.
  14. Dgany O, Avidan N, Delaunay J et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002; 71(6): 1467–1474. Dostupné z DOI: <http://dx.doi.org/10.1086/344781>.
  15. Babbs C, Roberts NA, Sanchez-Pulido L et al. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 2013; 98(9): 1383–1387. Dostupné z DOI: <http://dx.doi.org/10.3324/haematol.2013.089490>.
  16. Schwarz K, Iolascon A, Verissimo F et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009; 41(8): 936–940.Dostupné z DOI: <http://dx.doi.org/10.1038/ng.405>.
  17. Irvine AF, Vikberg AL et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood 2013; 121(23): 4791–4799. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2012–10–461392>.
  18. Sandström H, Wahlin A, Eriksson M et al. Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammapathy in congenital dyserythropoietic anaemia, type III. Eur J Haematol 1994; 52(1): 42–46.
  19. Arnaud L, Saison C, Helias V et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 2010; 87(5): 721–727. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ajhg.2010.10.010>.
  20. Jaffray JA, Mitchell WB, Gnanapragasam MN et al. Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. Blood Cells Mol Dis 2013; 51(2): 71–75. Dostupné z DOI: <http://dx.doi.org/10.1016/j.bcmd.2013.02.006>.
  21. Parez N, Dommergues M, Zupan V et al. Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol 2000; 110(2): 420–423.
  22. Lavabre-Bertrand T, Ramos J, Delfour C et al. Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I. Eur J Haematol 2004; 73(5): 380–383. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1600–0609.2004.00310.x>.
  23. Unal S, Russo R, Gumruk F et al. Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. Pediatr Transplant 2014; 18(4): E130-E133. Dostupné z DOI: <http://dx.doi.org/10.1111/petr.12254>.
  24. Ayas M, Al-Jefri A, Baothman A et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant 2002; 29(8): 681–682. Dostupné z DOI: <http://dx.doi.org/10.1038/sj.bmt.1703526>.
  25. Fanconi G. Familiäre, infantile, perniziosaartige Anämie (perniziöses Blutbiod and Konstitution). Jahrb Kinderheilk 1927; 117(2): 257–280.
  26. Verlander PC, Kaporis A, Liu Q et al. Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 1995; 86(11): 4034–4038.
  27. Neil VM, Fahmida E, Demuth I et al. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 2005; 105(9): 3542–3544. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2004–10–3968>.
  28. Giampietro PF, Verlander PC, Davis JG et al. Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study. Am J Med Genet 1997; 68(1): 58–61.
  29. Bogliolo M, Surrallés J. Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. Curr Opin Genet Dev 2015; 33: 32–40. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gde.2015.07.002>.
  30. Cheung RS, Taniguchi. T Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. Int J Hematol 2017; 106(3): 335–344. Dostupné z DOI: <http://dx.doi.org/10.1007/s12185–017–2283–4>.
  31. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Ginsburg D, Look AT (eds). Nathan and Oski‘s Hematology of Infancy and Childhood. Vol 1, 6th ed. WB Saunders Philadelphia 2003: 281–365. ISBN 978–1-4160–3430–8.
Štítky
Diabetology Endocrinology Internal medicine
Prihlásenie
Zabudnuté heslo

Zadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.

Prihlásenie

Nemáte účet?  Registrujte sa

#ADS_BOTTOM_SCRIPTS#